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EIF2D

Synonyms
HCA56, LGTN
External resources
Summary
This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,964
Likely benign
866
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EIF2D gene.

Phenotype class
Patients in 3billion (%)

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